Mod 9, 10, 11, 12 Quizzes exam 4

MOD 9: How can epigenomic modifications contribute to cancer development?

Accumulating mutations over time Shutting down expression of a tumor suppressor gene Shutting down expression of an oncogene Causing a dominant frameshift mutation in a proto-oncogene

MOD 12: What can whole genome sequencing reveal? Select ALL that apply.

An individual's carrier status for Mendelian disorders predictive information about late onset genetic diseases copy number variants Novel SNPs Risk factors for multifactorial diseases

MOD 11: The ______ component is what gives CRISPR-Cas9 its greatest advantage: _____

Answer 1: Cas9 enzyme RISC Guide RNA Answer 2: Versatility Targeted mRNA degradation Affordability

MOD 10: Carriers for translocations and ___________ are genetically balanced, but they can produce gametes that are ______________

Answer 1: Duplication Inversions Deletions Answer 2:

MOD 9: Mutations in ______ result in _______

Answer 1: a DNA repair gene p53 tsg Answer 2: additional somatic point mutations in successive mutations Increased signal transduction signaling activation of apoptotic pathways

MOD 9: Typically, mutations in proto-oncogenes are ________ , and mutations in tumor supressor genes are _______ .

Answer 1: gain of function Answer 2: loss of function

MOD 11: A nasal spray for cystic fibrosis patients, which contains adenovirus particles carrying a normal human CFTR gene, is an example of __________ gene therapy that targets _________ .

Answer 1: in vivo ex vivo in situ Answer 2: Somatic cells Germline cells

MOD 9: Tumors lose the balance between cell _____ and ________ .

Answer 1: proliferation dedifferentiation mutation Answer 2: differentiation meiosis

MOD 10: How could CNVs contribute more to genetic diversity overall than SNPs?

CNVs occur more often than SNPs when any two genomes are compared. Although more frequent, SNPs comprise a greater number of bases than CNVs. CNVs can hop from one chromosome to the next with a copy and paste mechanism Although less frequent, CNVs comprise a greater number of bases overall

MOD 9: Please match the description of cancer cell activity with its hallmark. -hijacking energy pathways in cell to synthesize more organelles -drilling through tissue to enter bloodstream -expressing telomerase -knocking out all activity of a tumor suppressor gene

Evading growth suppressors becoming immortal reprogramming metabolisim invasion and metastasis

MOD 11: For the following question, please use the table included below (its also the one from the lecture slides). You are designing a gene therapy to replace a defective fibrillin gene, which is 22,000 bp long and is important in preventing macular degeneration. You prefer not for the inserted DNA to integrate into the host genome. Which vector is best to use?

HSV-1 Associated Adenovirus AAV Lentivirus Adenovirus

MOD 12: What is an advantage of precision medicine?

Identifying each patient's "super drug" - the one medication that will cure all Determining the cause of every disease experienced by an individual Treatment plans tailored to a person's ethnicity Prescribing the best dosage of a drug based on a patient's genotype

MOD 9: Which of the following processes normally occur at some point during a lifetime in a healthy individual who does not have cancer? Select ALL that apply.

Metastasis Inflammation Apoptosis Differentiation

MOD 10: Please match the description with the type of chromosomal abnormality. Extra set of chromosomes one missing chromosome part of a chromosome present more than once two chromosomes swap ends

Monosomy Duplication Polyploidy Robertsonian Translocation

MOD 11: Alexander Disease is an autosomal dominant disorder of the nervous system in which the myelin covering of nerves is destroyed. Alexander Disease is caused by a gain of function mutation in the GFAP gene. If the expression of the mutant gene could be stopped, Alexander Disease might be treatable. What could be used to block GFAP?

Plasmids siRNA HSV-1 Dicer

MOD 12: What are some criticisms/ethical concerns of DTC genome services? Select all that apply.

Results are not consistent between DTC providers. There is no way to verify the "owner" of the DNA sample Their laboratory developed tests have not been validated by the FDA The results could be misinterpreted if a consumer does not understand risk The turn-around time is too slow

MOD 12: Which of the following is used to study the abundance and community of microorganisms in an environment?

TMPT CYP genes 16s rRNA pharmacogenetics

MOD 9: Why do researchers want to knock out telomerase function in cancer cells?

Telomerase encourages blood vessel growth Telomerase initiates programmed cell death Telomerase extends the ends of chromosomes and leads to immortality Telomerase protects the ends of chromosomes and leads to cell death

MOD 10: A researcher is using sequencing to detect CNVs in a sample genome versus a reference genome. The sample genome has been cut into 3000 bp sized fragments. The ends of one fragment align to positions 1000 bp apart on the reference genome. What can the researcher conclude: Hint: You may want to draw this out.

The sample genome is abnormal. The sample genome has a duplication and is 2000 bp larger than the reference The sample genome must be from a person with a rare, Mendelian disorder. The sample genome has a deletion of 2000 bp compared to the reference

MOD 9: Please match the description of cancer cell activity with its hallmark. P53 triggering apoptosis VEGF angiogenesis Activation of signal transduction pathways without external signals Release of reactive oxygen species during immune response

Tumor-promoting inflammation Obtaining nutrients Evading cell death Uncontrollable growth

MOD 11: What role do/could viruses play in treating genetic disease?

Viruses can transport drugs specifically to their targets so as to avoid a systemic reaction to a medication. Viruses can "wake up" an immune system that has been ineffective at battling a disease. Some viruses have healing properties by repairing damaged tissues. Viruses can deliver healthy genes by their ability to infect human cells and integrate into their DNA

MOD 10: In a qPCR, such as TaqMan, what generates the fluorescent signal?

a labeled nucleotide incorporated into a new strand by polymerase the displacement of the probe from the DNA template hybridization to the target sequence

MOD 10: Which of the following is an example of a diagnostic method for detecting abnormal chromosomal numbers in a fetus? Select ALL that apply.

chorionic villi sampling MoM value analysis amniocentesis cell-free fetal DNA analysis

MOD 11: A valid and significant challenge in classic gene therapy is: Select ALL that apply.

determining the insertion point in the genome finding a disease to treat balancing the risk of an immune response controlling the gene dosage

MOD 11: CRISPR-Cas9 in bacterial cells is analogous to our:

digestive system nervous system immune system reproductive system

MOD 9: When compared to their normal "healthy" counterparts, cancer cells: Select ALL that apply.

divide uncontrollably and then die divide uncontrollably and are less functionally specialized are particularly sensitive to extracellular signals

MOD 9: A karyotype of a tumor cell can indicate: CHECK ALL THAT APPLY.

dominant and recessive mutations Whole Chromosome loss Chromosome rearrangements Whole Chromosome duplication trisomy

MOD 11: A valid and significant cha

finding a disease to treat controlling the gene dosage balancing the risk of an immune response determining the insertion point in the genome

MOD 12: An individual who is classified as an Intermediate Metabolizer of Warfarin probably:

has a duplication of a Cyp gene that leads to increased expression is homozygous recessive for a loss of function Cyp allele is heterozygous for a Cyp gene

MOD 9: Which of the following describe characteristics of cancer cells? CHECK ALL THAT APPLY.

highly specialized invasive long telomeres apoptotic increased DNA repair altered gene expression

MOD 12: Jane needs an antidepressant. Prior to prescribing a specific antidepressant and dosage, her medical team first determines Jane's genotype for a gene involved in antidepressant metabolism. This is an example of:

metagenomics microbiome analysis phylogenomics pharmacokinetics pharmacogenetics

MOD 9: How could epigenetic modifications contribute to tumor development?

methylation could inactivate an oncogene methylation could inactivate a tumor suppressor gene methylation could cause a gain of function mutation in a tumor suppressor gene hyper-methylation could over express DNA repair genes methylation could activate a tumor suppressor gene

MOD 12: Identifying bacteria communities that are associated with diseases versus bacterial species associated with health will be complicated because:

microbiomes vary among different people and different tissues bacteria in humans are too rare to detect microbiomes vary from day to day healthy individuals do not have microbiomes

MOD 10: Which of the following is a single test that detects if an individual is a carrier for 500 recessive diseases?

newborn screening preconception comprehensive carrier screening prenatal testing diagnostic test

MOD 9: How do tumors induce the growth of new blood vessels?

p53 initiates the growth of blood vessels Tumor releases VEGF Telomerase is released Ras is activated

MOD 10: Which of the following techniques analyzes a single cell to determine if an embryo contains a mutation that results in a disorder?

preimplantation genetic diagnosis BRCA 1/2 analysis sperm selection cfDNA sequencing

MOD 10: Which of the following might a genetic counselor do as part of her job? Select ALL that apply.

require a patient to take a genetic test explain the inheritance of a specific genetic disorder in a family take a DNA sample from a patient and family members evaluate risks of recurrence of a genetic disorder advise on genetic testing options

MOD 11: Cas9 is a:

retrovirus RNA double stranded RNA hairpin protein miRNA

MOD 11: This week, researchers published the results of an amazing gene therapy study to treat a boy with a rare and severe skin disorder called epidermolysis bullosa (EB), which can be fatal. This gene therapy scheme involves which of the following: (Select all the apply).

retrovirus vector RNAi of skin stem cells retroviral vector without integration replacement gene therapy stem cells modified with lentiviruses ex vivo delivery suppression gene therapy in vivo delivery

MOD 12: DTC providers such as 23andme can provide consumers with their genetic susceptibilities to different complex genetic diseases. The genetic information is based on:

risk factors determined by GWAS results pedigree mapping of Mendelian traits karyotyping whole genome sequencing novel, previously undocumented SNPs

MOD 9: What does the term "liquid biopsy" refer to?

tracing the path of metastasis in patient by measuring gene expression measuring gene expression changes with a microarray monitoring cancer growth by sequencing circulating tumor DNA in a patient